Evidence map›Paper›PMID 42070088›Full record

ArticlePrenatal diagnosis2026

Transforming Prenatal Care in a Highly Inbred Population: Impact of a Multidisciplinary Board.

Abdullah H Alfalah, Hamad Alzaidan, Ahmed Alfares, Raashda Sulaiman, Hana Alharbi, Mohamed H Al-Hamed, Saleh Albanyan, David H Ledbetter, Yara Alqahtani, Wafa Aljanfawi and 13 more

Abstract read
In one paragraph

Article in Prenatal diagnosis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors.

Abdullah H AlfalahPrecision Medicine Laboratory Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.ORCID https://orcid.org/0000-0002-0808-1859
Hamad AlzaidanDepartment of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Ahmed AlfaresPrecision Medicine Laboratory Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.ORCID https://orcid.org/0000-0003-4222-0952
Raashda SulaimanDepartment of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.ORCID https://orcid.org/0000-0002-6868-9823
Hana AlharbiDepartment of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Mohamed H Al-HamedPrecision Medicine Laboratory Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.ORCID https://orcid.org/0000-0002-7207-6122
Saleh AlbanyanDepartment of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
David H LedbetterInstitute for Pediatric Rare Diseases, College of Medicine, Florida State University, Tallahassee, Florida, USA.
Yara AlqahtaniDepartment of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Wafa AljanfawiDepartment of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Mohammed ToharyPrecision Medicine Laboratory Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Lamees AlHabibPrecision Medicine Laboratory Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hajar AlakeelPrecision Medicine Laboratory Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Randa AlShammariPrecision Medicine Laboratory Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Meshari M AlwazaeComputational Sciences Department, Genomic Medicine Center of Excellence, Riyadh, Saudi Arabia.
Ibrahim AlqasirDepartment of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Wesam KurdiDepartment of Obstetrics & Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Maha TulbahDepartment of Obstetrics & Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Rawan AlmassDepartment of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Fatimah AlturkiDepartment of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Gawaher AlmutairiDepartment of Obstetrics & Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Faiqa ImtiazPrecision Medicine Laboratory Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Mohammed Al-OwainDepartment of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveThis study aims to evaluate the outcomes of a new PND initiative designed to optimize healthcare delivery in a highly consanguineous population.

methodsA descriptive study was conducted at a major tertiary referral center for genetic diseases in Saudi Arabia with a large scope objective to improve the existing prenatal diagnosis (PND) process. Consequently, a new prenatal workflow featuring a structured checklist, a dedicated prenatal board, and enhanced genetic counseling has been implemented since September 2023. The study included all prenatal cases with a documented autosomal recessive (AR) disease.

resultsThe program processed 1128 cases, with 952 cleared by the prenatal checklist. In total, the board has discussed 160 variants of unknown significance (VUS), of which 122 (76%) were upgraded to likely pathogenic/pathogenic. Remarkably, the prenatal checklist enhanced patient safety and reduced serious harm incidents, while the prenatal board facilitated precision medicine by leveraging collective expertise in variant interpretation.

conclusionThis initiative significantly improved the healthcare, safety, and accessibility of PND services. The prenatal board and checklist streamlined decision-making, minimized errors, and enhanced patient outcomes. The model provides a cost-effective approach to preventing genetic diseases in highly consanguineous populations and serves as a replicable framework for similar settings worldwide.

Indexed as

ConsanguinityGenetic Diseases, InbornPrenatal CarePrenatal DiagnosisChecklistFemaleGenetic CounselingHumansPregnancySaudi Arabia

Identifiers

PMID42070088
PMCPMC13446526

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.